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Excel in Rare Diseases’ Research: Focus on LYSOsomal Disorders and CILiopathies

Periodic Reporting for period 2 - LYSOCIL (Excel in Rare Diseases’ Research: Focus on LYSOsomal Disorders and CILiopathies)

Reporting period: 2020-02-01 to 2022-04-30

The overall aim of LYSOCIL is to strengthen the research and innovation capacity of the Chronic Diseases Research Center of NOVA Medical School (UNL-NMS-CEDOC) and capacitating it to become a national and internationally recognized Center of Excellence in Chronic Rare Diseases (RDs) research and innovation. RDs represent a big challenge for biomedical research and health care, the patients and their families due to the high diversity, low numbers and scattered distribution of patients affected. International cooperation is paramount to understand the etiology and find better diagnostic methods for RDs. LYSOCIL addresses that need through a scientific strategy to reinforce research and innovation excellence in the study of lysosomal diseases and ciliopathies.

Towards this goal, UNL-NMS-CEDOC partnered with two internationally leading research institutions, Münster University (WWU) in Germany and the Telethon Institute of Genetics and Medicine (TIGEM - FTELE.IGM) in Italy. LYSOCIL leveraged on WWU and TIGEM’s outstanding multidisciplinary knowledge and experience, research and training best practices, as well as collaborative networks to enhance the research capacity and innovation potential of UNL-NMS-CEDOC. LYSOCIL consisted in an integrated network of interactions (training of researchers through Staff Exchanges, Satellite Meetings, Winter Retreats, Virtual Think Tanks, etc.) to power the research capacity of UNL-NMS-CEDOC and its local and national ecosystems.

Stimulating novel and long-lasting interactions between UNL-NMS-CEDOC, WWU and TIGEM (FTELE.IGM) is expected to unlock the research potential within and outside UNL-NMS-CEDOC, with an overall increase in the Portuguese and European RD research competitiveness.
After the 42 months of LYSOCIL implementation, the outcomes and overall impact of this Twinning action on the research capacity of UNL-NMS-CEDOC are plentiful and quite clear, with the entire WP4 dedicated to improving the performance and competitiveness of UNL-NMS-CEDOC Researchers in lysosomal and ciliary Rare Diseases (RDs) research.

The activities foreseen under the scope of LYSOCIL clearly reinforced the research and innovation profile in RDs by consolidating research skills through online and onsite Workshops, Virtual Think Tanks (VTTs), a Summer School, Staff Exchanges, Winter Retreats, a Final Conference, a series of talks by renowned international experts about RDs, and a Mentoring Programme. The reports about this Mentoring Programme state a general increase in the UNL-NMS-CEDOC researchers’ portfolio of expertise, productivity, career progress and network. This increase in research excellence is corroborated by the increase in the mean h-index of ca. 29% (19.4 to 24.4) a 48% growth in the total number of citations (330 to 403), and a rise of 117% in the number of publications of the researchers involved (15 to 32), when comparing the beginning and the end of the reporting period of this mentoring programme. All the knowledge and expertise gained through these capacity-building activities were and continue to be applied in the leadership and involvement in applications to national, European, and international funding opportunities.

Thus far, LYSOCIL project promoted publications in high impact factor journals, including collaborative publications between UNL-NMS-CEDOC research groups and consortium members. Moreover, the project resulted in the publication of 10 publications, with the contribution of all LYSOCIL partners and EAB members, which resulted from project activities. Furthermore, the participation of researchers in national and international scientific conferences and meetings with several oral (42) and poster (50) presentations was enhanced.

LYSOCIL also reinforced the reputation, attractiveness and networking channels of UNL-NMS-CEDOC by consolidating, widening and intensifying collaborations with WWU and TIGEM. Beyond the consortium, the LYSOCIL project was fully committed to communicating and disseminating information about RDs. The implementation of a rigorous dissemination and communication plan ensured the highest possible impact across Lisbon, Portuguese and European scientific communities working in chronic RDs. From a website to outdoors, from social media to a broadcast live on Portuguese and international television (RTP and RTP Internacional), under the scope of Maratona da Saúde’s 7th Edition dedicated to RDs, consistent messages and dissemination materials were adopted, fully maximizing the engagement with research and science.

Also, by deploying a set of outreach and exploitation activities to patients and their representatives, LYSOCIL enhanced the impact of the project with special attention to the end-users. In parallel with the promotion and sharing of knowledge and awareness about RDs, collaborations with patient associations were established, increasing the recognition of UNL-NMS-CEDOC in the RDs field.
Through the LYSOCIL network, UNL-NMS-CEDOC aimed to strengthen its research and innovation capacity by enhancing the biomedical, translational and clinical research in rare chronic diseases, to foster the expertise on drug screening, diagnostics and gene therapy, allowing a better understanding of lysosomal disorders and ciliopathies and helping to devise new therapies.

By setting up a collaborating network with TIGEM and WWU that stimulated the exchange of scientific knowledge and technological expertise, as well as facilities and scientific platforms within the consortium, LYSOCIL had a direct impact on the enhancement of UNL-NMS-CEDOC research excellence.

The networking activities and collaborative exchanges were designed to maximise the impact of LYSOCIL in the scientific capacity and excellence of UNL-NMS-CEDOC researchers, increasing their participation in European networks of excellence and generating long-lasting collaborations between the different partners. For UNL-NMS-CEDOC, the expected impact was the increasing in research excellence with a particular focus on lysosomal diseases and ciliopathies research fields, by promoting collaborations with partner institutions, patient associations, regional and national scientific community; and by improving the scientific and technical capacity through the project’s activities. This also led to an enhanced international exposure, increasing the success rate in national and international competitive funding calls through intensified collaborative efforts.

Through LYSOCIL’s local, national and international activities, this collaborative initiative had an impact in the Lisbon, Portuguese and European scientific communities in chronic RDs research. LYSOCIL will also have a long-term societal impact, raising the quality and outreach of UNL-NMS-CEDOC research. Thus, LYSOCIL created a significant improvement in the UNL-NMS-CEDOC scientific and innovation capacity, which can only be achieved by long-term engagement of the current networking activities that will continue to foster a lively and dynamic environment between the LYSOCIL partners.
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